ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
17 18 15 4 1 4 52

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MFN2 17 18 15 4 1 4 52

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 3 1 5 0 0 0 9
Fulgent Genetics, Fulgent Genetics 3 0 1 4 1 0 9
OMIM 7 0 0 0 0 0 7
Kariminejad - Najmabadi Pathology & Genetics Center 0 4 2 0 0 0 6
Next Generation Genetic Polyclinic 1 2 1 0 0 0 4
3billion 0 2 1 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 2 0 0 0 0 3
Institute of Human Genetics, Cologne University 1 2 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 1 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 1 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
CMT Laboratory, Bogazici University 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 1 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Laboratory of Applied Genomics, Kongju National University 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1

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